Skip To Main Content
Najlae Adadi on Muck Rack

Najlae Adadi

As seen in: Journal of Medical Case Reports
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Najlae

Contact Najlae, search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

|
By Najlae Adadi, Maryem Sahli, Grégory Egéa, Ilham Ratbi
| Journal of Medical Case Reports Verified
The GSDs are a group of inherited metabolic disorders resulting from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation [7]. GSD2 or Pompe disease is a monogenic autosomal recessive disorder caused by a deficiency of α-1,4-glucosidase, an enzyme required for the degradation of lysosomal glycogen [8]. The disorder was initially described by Johannes Pompe in 1932 [4].
Open in Who Shared Issue with article?
See all 1 articles